Activin A: a marker of mineral bone disorder in children with chronic kidney disease?

BACKGROUND: Activin A has been shown to enhance osteoclast activity and its inhibition results in bone growth. The potential role of activin A as a marker of chronic kidney disease-mineral bone disease (CKD-MBD) and its relationship with other markers has not been studied in children with CKD. METHODS: A cross sectional study was conducted among 40 children aged 2 to 18 years with CKD (Stage 2 to 5; 10 in each stage) and 40 matched controls. Activin A, cathepsin K, FGF-23, PTH, serum calcium, phosphorous and alkaline phosphatase in both groups were measured and compared. The correlation of activin A and markers of CKD-MBD was studied. A p value of < 0.05 was considered significant. RESULTS: The mean age of children with CKD was 9.30 ± 3.64 years. Mean levels of activin A in cases were 485.55 pg/ml compared to 76.19 pg/ml in controls (p < 0.001). FGF-23 levels in cases were 133.18 pg/ml while in controls it was 6.93 pg/ml (p < 0.001). Mean levels of cathepsin K were also significantly higher in cases as compared to controls. There was a progressive increase in activin A and cathepsin K levels with increasing stage of CKD. Activin A had a significant positive correlation with serum creatinine (r = 0.51; p < 0.001). CONCLUSIONS: Activin A levels progressively rise with advancing CKD stage. These findings suggest that activin A can be a potential early marker of CKD-MBD in children.

Infantile nephrotic syndrome secondary to cytomegalovirus infection in a 7-month-old girl: resolution with ganciclovir.

Infantile nephrotic syndrome is a rare disorder which is frequently caused by genetic defects. A 7-month-old girl presented with fever, loose stools and anasarca and was diagnosed with nephrotic syndrome. Work-up for a genetic cause was negative. Cytomegalovirus polymerase chain reaction (CMV PCR) was positive and the infant was treated with ganciclovir for 6 weeks, followed by valganciclovir for 10 weeks. All symptoms resolved within 2 weeks of commencing treatment and she attained complete remission within 4 weeks. CMV PCR was negative within 4 weeks of antiviral therapy. At 18 months follow-up she remained well. Appropriate treatment of infantile nephrotic syndrome secondary to CMV should result in recovery.

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature / Raquitismo dependente de vitamina D: tipo 1: série de casos de dois irmãos com mutação CYP27B1 e revisão da literatura

Abstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.

Resumo Dois irmãos apresentaram características clínicas e bioquímicas do raquitismo, com suspeita clínica inicial de raquitismo hipofosfatêmico. Não houve melhora no início, portanto os irmãos foram reavaliados e, posteriormente, diagnosticados com raquitismo dependente de vitamina D (VDDR) tipo 1 devido a uma rara mutação no gene CYP27B1, que codifica a enzima 1a-hidroxilase. Ambos os irmãos melhoraram com a suplementação de calcitriol. A apresentação inicial do VDDR geralmente é confusa e a avaliação algorítmica ajuda no diagnóstico. Também apresentamos uma breve revisão da literatura, incluindo genética.

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.

Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.

Nuclear Imaging in Pediatric Kidney Diseases.

Renal scintigraphy is a useful tool in diagnosis and management of various nephro-urological conditions. Tc-99m dimercaptosuccinic acid renal scintigraphy (Tc-99m-DMSA), Tc-99m mercaptoacetyltriglycine (Tc-99m-MAG3) or Tc-99m diethylenetriaminepentaacetic acid (Tc-99m-DTPA) dynamic renal scintigraphy, and Radionuclide micturating cystography are the common scans used in children with kidney diseases. These studies are minimally invasive, easily available, and offer both anatomic details and functional information required for thorough evaluation. At the same time, it is essential to have appropriate knowledge to interpret these studies and be aware of their limitations and pitfalls. The advent of Positron emission tomography-computed tomography/magnetic resonance imaging (PET-CT/MRI) has broadened the scope of nuclear medicine. This article focuses on the technique, interpretation, indication and recent practice guidelines of renal scintigraphy in children with kidney diseases.

Frequent relapses in a child with nephrotic syndrome due to PLEVA.

A seven-year-old boy with nephrotic syndrome presented with a frequent rash along with relapse of nephrotic syndrome. Clinical and histological features were suggestive of pityriasis lichenoides et varioliformis acuta (PLEVA). Treatment of the condition with doxycycline led to the cure of the lesions as well as the relapses.

Bilateral mandibular paramolars.

Supernumerary tooth is a developmental anomaly and has been argued to arise from multiple etiologies. These teeth may remain embedded in the alveolar bone or can erupt into the oral cavity. They can cause a variety of complications in the develo-ping dentition. Supernumerary teeth can present in various forms and in any region of the mandible or maxilla, but have a predisposition for the anterior maxilla. Here is the presentation of a case of unusual location of supernumerary teeth located in between mandibular first and second molar region bilaterally. How to cite this article: Dhull KS, Dhull RS, Panda S, Acharya S, Yadav S, Mohanty G. Bilateral Mandibular Paramolars. Int J Clin Pediatr Dent 2014;7(1):40-42.

Oro-facial-digital syndrome type 1: a case report.

Oro-Facial Digital Syndrome (OFDS) is a generic term for group of apparently distinctive genetic diseases that affect the development of the oral cavity, facial features, and digits. One of these is OFDS type I (OFDS-I) which has rarely been reported in Asian countries. This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth.